Reversible mislocalization of a disease-associated MRE11 splice variant product

نویسندگان
چکیده

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats

One of the salient features of the domestic cat is the aesthetics of its fur. The Selkirk Rex breed is defined by an autosomal dominant woolly rexoid hair (ADWH) abnormality that is characterized by tightly curled hair shafts. A genome-wide case - control association study was conducted using 9 curly coated Selkirk Rex and 29 controls, including straight-coated Selkirk Rex, British Shorthair an...

متن کامل

تأثیر آدنوزین ´5تری فسفات در القای آپوپتوز و مهار بیان ژن Survivin و واریانت پیرایشی ضد آپوپتوزی SUR-3B آن در سلول های K562

Introduction: Leukemia is a heterogeneous malignant disease in which progression at the level of CD34+ cells has a major impact in drug resistance and relapse. The multi-drug resistance gene product, P-glycoprotein is an inhibitor of apoptosis proteins (IAPs), such as Survivin that are expressed simultaneously with several putative drug resistance parameters in CD34+ leukemia cells. In fact, IA...

متن کامل

Expression and characterization of a human carboxylesterase 2 splice variant.

CPT-11 [7-ethyl-10-[4-(1-piperidino)-1-piperidino] carbonyloxycamptothecin or Irinotecan] is a carbamate prodrug that is activated in vivo by carboxylesterase (CES)-2 to SN-38 (7-ethyl-10-hydroxycamptothecin), a potent topoisomerase I inhibitor. There is high interindividual variation when CPT-11 is used in the treatment of colorectal cancer. Several splice variants of CES2 are reported in the ...

متن کامل

Reversible Pulmonary Hypertension Associated with Whipple's Disease

We describe a case of Whipple's disease with pulmonary hypertension in a 72-year-old woman in whom the pulmonary hypertension resolved completely after antibiotic therapy. She was admitted to study with a 2-months history of weight loss, diarrhoea, abdominal pain, asthenia, inappetence, and fever. She did not have dyspnoea or respiratory symptoms. A casual echocardiogram showed a pulmonary arte...

متن کامل

Characterization of a novel porcine endothelin(B) receptor splice variant.

Screening of porcine cerebellum cDNA library with porcine endothelin(B) (ET(B)) receptor cDNA revealed a novel ET(B) receptor cDNA that is distinctly different from the wild-type ET(B) receptor in length and the amino acid sequence at the C-terminal end. This sequence appears to represent alternate splicing of the carboxy terminal end of ET(B) receptor, resulting in a polypeptide of 429 amino a...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Scientific Reports

سال: 2018

ISSN: 2045-2322

DOI: 10.1038/s41598-018-28370-5